-
1
-
-
0037240098
-
Genetic diversity within the R408W phenylketonuria mutation lineages in Europe
-
O. Tighe, D. Dunican, C. O'Neill, G. Bertorelle, D. Beattie, C. Graham, J. Zschocke, F. Cali, V. Romano, E. Hrabincova, L. Kozak, M. Nechyporenko, L. Livshits, P. Guldberg, M. Jurkowska, C. Zekanowski, B. Perez, L.R. Desviat, M. Ugarte, V. Kucinskas, P. Knappskog, E. Treacy, E. Naughten, L. Tyfield, S. Byck, C.R. Scriver, P.D. Mayne, and D.T. Croke Genetic diversity within the R408W phenylketonuria mutation lineages in Europe Hum. Mutat. 21 2003 387 393
-
(2003)
Hum. Mutat.
, vol.21
, pp. 387-393
-
-
Tighe, O.1
Dunican, D.2
O'Neill, C.3
Bertorelle, G.4
Beattie, D.5
Graham, C.6
Zschocke, J.7
Cali, F.8
Romano, V.9
Hrabincova, E.10
Kozak, L.11
Nechyporenko, M.12
Livshits, L.13
Guldberg, P.14
Jurkowska, M.15
Zekanowski, C.16
Perez, B.17
Desviat, L.R.18
Ugarte, M.19
Kucinskas, V.20
Knappskog, P.21
Treacy, E.22
Naughten, E.23
Tyfield, L.24
Byck, S.25
Scriver, C.R.26
Mayne, P.D.27
Croke, D.T.28
more..
-
2
-
-
0031898769
-
Blood-brain barrier carrier-mediated transport and brain metabolism of amino acids
-
W.M. Pardridge Blood-brain barrier carrier-mediated transport and brain metabolism of amino acids Neurochem. Res. 23 1998 635 644
-
(1998)
Neurochem. Res.
, vol.23
, pp. 635-644
-
-
Pardridge, W.M.1
-
3
-
-
0020354211
-
The effects of chronic hyperphenylalaninaemia on mouse brain protein synthesis can be prevented by other amino acids
-
P. Binek-Singer, and T.C. Johnson The effects of chronic hyperphenylalaninaemia on mouse brain protein synthesis can be prevented by other amino acids Biochem. J. 206 1982 407 414
-
(1982)
Biochem. J.
, vol.206
, pp. 407-414
-
-
Binek-Singer, P.1
Johnson, T.C.2
-
4
-
-
0344394559
-
Future role of large neutral amino acids in transport of phenylalanine into the brain
-
R. Matalon, S. Surendran, K.M. Matalon, S. Tyring, M. Quast, W. Jinga, E. Ezell, and S. Szucs Future role of large neutral amino acids in transport of phenylalanine into the brain Pediatrics 112 2003 1570 1574
-
(2003)
Pediatrics
, vol.112
, pp. 1570-1574
-
-
Matalon, R.1
Surendran, S.2
Matalon, K.M.3
Tyring, S.4
Quast, M.5
Jinga, W.6
Ezell, E.7
Szucs, S.8
-
5
-
-
0033753597
-
Blood-brain phenylalanine relationships in persons with phenylketonuria
-
R. Koch, R. Moats, F. Guttler, P. Guldberg, and M. Nelson Jr. Blood-brain phenylalanine relationships in persons with phenylketonuria Pediatrics 106 2000 1093 1096
-
(2000)
Pediatrics
, vol.106
, pp. 1093-1096
-
-
Koch, R.1
Moats, R.2
Guttler, F.3
Guldberg, P.4
Nelson Jr., M.5
-
6
-
-
0347384249
-
Brain imaging and proton magnetic resonance spectroscopy in patients with phenylketonuria
-
H.E. Moller, J. Weglage, U. Bick, D. Wiedermann, R. Feldmann, and K. Ullrich Brain imaging and proton magnetic resonance spectroscopy in patients with phenylketonuria Pediatrics 112 2003 1580 1583
-
(2003)
Pediatrics
, vol.112
, pp. 1580-1583
-
-
Moller, H.E.1
Weglage, J.2
Bick, U.3
Wiedermann, D.4
Feldmann, R.5
Ullrich, K.6
-
7
-
-
0344765524
-
Blood-brain barrier phenylalanine transport and individual vulnerability in phenylketonuria
-
H.E. Moller, J. Weglage, D. Wiedermann, and K. Ullrich Blood-brain barrier phenylalanine transport and individual vulnerability in phenylketonuria J. Cereb. Blood Flow Metab. 18 1998 1184 1191
-
(1998)
J. Cereb. Blood Flow Metab.
, vol.18
, pp. 1184-1191
-
-
Moller, H.E.1
Weglage, J.2
Wiedermann, D.3
Ullrich, K.4
-
8
-
-
0034790495
-
Individual blood-brain barrier phenylalanine transport determines clinical outcome in phenylketonuria
-
J. Weglage, D. Wiedermann, J. Denecke, R. Feldmann, H.G. Koch, K. Ullrich, E. Harms, and H.E. Moller Individual blood-brain barrier phenylalanine transport determines clinical outcome in phenylketonuria Ann. Neurol. 50 2001 463 467
-
(2001)
Ann. Neurol.
, vol.50
, pp. 463-467
-
-
Weglage, J.1
Wiedermann, D.2
Denecke, J.3
Feldmann, R.4
Koch, H.G.5
Ullrich, K.6
Harms, E.7
Moller, H.E.8
-
9
-
-
12244308540
-
Individual blood-brain barrier phenylalanine transport in siblings with classical phenylketonuria
-
J. Weglage, D. Wiedermann, J. Denecke, R. Feldmann, H.G. Koch, K. Ullrich, and H.E. Moller Individual blood-brain barrier phenylalanine transport in siblings with classical phenylketonuria J. Inherit. Metab. Dis. 25 2002 431 436
-
(2002)
J. Inherit. Metab. Dis.
, vol.25
, pp. 431-436
-
-
Weglage, J.1
Wiedermann, D.2
Denecke, J.3
Feldmann, R.4
Koch, H.G.5
Ullrich, K.6
Moller, H.E.7
-
10
-
-
0037347121
-
Site-directed mutagenesis of rabbit LAT1 at amino acids 219 and 234
-
R.J. Boado, J.Y. Li, and W.M. Pardridge Site-directed mutagenesis of rabbit LAT1 at amino acids 219 and 234 J. Neurochem. 84 2003 1322 1331
-
(2003)
J. Neurochem.
, vol.84
, pp. 1322-1331
-
-
Boado, R.J.1
Li, J.Y.2
Pardridge, W.M.3
-
11
-
-
0032508585
-
Expression cloning and characterization of a transporter for large neutral amino acids activated by the heavy chain of 4F2 antigen (CD98)
-
Y. Kanai, H. Segawa, K. Miyamoto, H. Uchino, E. Takeda, and H. Endou Expression cloning and characterization of a transporter for large neutral amino acids activated by the heavy chain of 4F2 antigen (CD98) J. Biol. Chem. 273 1998 23629 23632
-
(1998)
J. Biol. Chem.
, vol.273
, pp. 23629-23632
-
-
Kanai, Y.1
Segawa, H.2
Miyamoto, K.3
Uchino, H.4
Takeda, E.5
Endou, H.6
-
13
-
-
0025885450
-
A one-step procedure for isolation of poly(A)+ mRNA from isolated brain capillaries and endothelial cells in culture
-
R.J. Boado, and W.M. Pardridge A one-step procedure for isolation of poly(A)+ mRNA from isolated brain capillaries and endothelial cells in culture J. Neurochem. 57 1991 2136 2139
-
(1991)
J. Neurochem.
, vol.57
, pp. 2136-2139
-
-
Boado, R.J.1
Pardridge, W.M.2
-
14
-
-
13044258426
-
Selective expression of the large neutral amino acid transporter at the blood-brain barrier
-
R.J. Boado, J.Y. Li, M. Nagaya, C. Zhang, and W.M. Pardridge Selective expression of the large neutral amino acid transporter at the blood-brain barrier Proc. Natl. Acad. Sci. USA 96 1999 12079 12084
-
(1999)
Proc. Natl. Acad. Sci. USA
, vol.96
, pp. 12079-12084
-
-
Boado, R.J.1
Li, J.Y.2
Nagaya, M.3
Zhang, C.4
Pardridge, W.M.5
-
16
-
-
0033573892
-
Human LAT1, a subunit of system l-amino acid transporter: Molecular cloning and transport function
-
P.D. Prasad, H. Wang, W. Huang, R. Kekuda, D.P. Rajan, F.H. Leibach, and V. Ganapathy Human LAT1, a subunit of system l-amino acid transporter: molecular cloning and transport function Biochem. Biophys. Res. Commun. 255 1999 283 288
-
(1999)
Biochem. Biophys. Res. Commun.
, vol.255
, pp. 283-288
-
-
Prasad, P.D.1
Wang, H.2
Huang, W.3
Kekuda, R.4
Rajan, D.P.5
Leibach, F.H.6
Ganapathy, V.7
-
17
-
-
0036252070
-
Up-regulated expression of a novel gene in activated human peripheral blood mononuclear cells that is a truncated paralog of the human system l-amino acid transporter 1
-
M. Ito, S. Takebayashi, K. Okumura, T. Ohkubo, M. Nishio, M. Kawano, H. Komada, Y. Ito, and M. Tsurudome Up-regulated expression of a novel gene in activated human peripheral blood mononuclear cells that is a truncated paralog of the human system l-amino acid transporter 1 Int. J. Biochem. Cell Biol. 34 2002 1152 1163
-
(2002)
Int. J. Biochem. Cell Biol.
, vol.34
, pp. 1152-1163
-
-
Ito, M.1
Takebayashi, S.2
Okumura, K.3
Ohkubo, T.4
Nishio, M.5
Kawano, M.6
Komada, H.7
Ito, Y.8
Tsurudome, M.9
-
18
-
-
0033520913
-
LAT2, a new basolateral 4F2hc/CD98-associated amino acid transporter of kidney and intestine
-
G. Rossier, C. Meier, C. Bauch, V. Summa, B. Sordat, F. Verrey, and L.C. Kuhn LAT2, a new basolateral 4F2hc/CD98-associated amino acid transporter of kidney and intestine J. Biol. Chem. 274 1999 34948 34954
-
(1999)
J. Biol. Chem.
, vol.274
, pp. 34948-34954
-
-
Rossier, G.1
Meier, C.2
Bauch, C.3
Summa, V.4
Sordat, B.5
Verrey, F.6
Kuhn, L.C.7
|